A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697119



Internal ID9764923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225815116..225815458hg38UCSC Ensembl
Outerchr1:226002818..226003160hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723929
Supporting Variants
SamplesSSM038
Known GenesEPHX1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6697119
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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